R33C (p.Arg33Cys) variant of SDHAF2 (Q9NX18)
R33C (p.Arg33Cys) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Hereditary cancer-predisposing syndrome; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R33C (p.Arg33Cys) variant details
- p.Arg33Cys
- rs144867876
- ClinGen CA017340
- cosmic curated COSV57100
- ClinVar RCV000034764
- Benign/Likely benign
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.24
- MetaLR 0.40
- MetaSVM -0.58
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Benign/Likely benign (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)